WordNet
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
- any skin disorder involving abnormal redness
PrepTutorEJDIC
- (病気・身体的欠陥など)生まれつきの,先天的な
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/05/21 21:20:46」(JST)
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Congenital Ichthyosiform Erythroderma |
Classification and external resources |
ICD-10 |
Q80.2 |
ICD-9 |
757.1 |
OMIM |
242100 |
DiseasesDB |
33314 |
MeSH |
D016113 |
Congenital Ichthyosiform Erythroderma (CIE), also known as Nonbullous congenital ichthyosiform erythroderma[1]:484 is a rare type the ichthyosis family of skin diseases which occurs in 1 in 200,000 to 300,000 births.
Contents
- 1 Symptoms
- 2 Genetics
- 3 See also
- 4 External links
- 5 References
Symptoms
CIE has symptoms very similar to Lamellar ichthyosis (LI) but milder and is considered by many scientists to be a variant of that disease, so both diseases are grouped under the title autosomal recessive congenital ichthyosis (ARCI).[2]
The baby is often born in a collodion membrane, a shiny, wax outer layer on the skin and usually with ectropion, having the lower eyelid turned outwards. When the membrane is shed the skin is red with a generalized white scale. Palms, soles and areas on the joints are often affected with hyperkeratosis, a thickening of the layer of dead skin cells on the surface of the skin. In classical CIE (unlike LI) there is little eclabion (eversion of the lips), ectropion and alopecia (hair loss).
Many people with ACRI don't fit neatly into the definition of LI or CIE but have characteristics of both diseases. The definitions of CIE and LI describe the extremes of the range of ACRI. [3] [4]
Genetics
CIE is an autosomal recessive genetic disorder. This means you need to inherit a defective pair of genes (one from each parent) to show the symptoms. Parents who are carriers of the defective genes show no symptoms but their children have a 25% chance of having CIE.[citation needed]
There are several genetic faults which can produce CIE. Known ones are in the transglutaminase-1 gene (TGM1), the 12R-lipoxygenase gene (ALOX12B), the lipoxygenase-3 gene (ALOXE3) and the ABHD5 gene.[5]:561
Defects in the ABHD5 gene produce a type of CIE called Neutral lipid storage disease (Chanarin-Dorfman syndrome).[6]
See also
- Ichthyosis
- Lamellar ichthyosis
- Collodion baby
- List of cutaneous conditions
External links
- GeneReviews/NCBI/NIH/UW entry on Autosomal Recessive Congenital Ichthyosis
References
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ Lamellar ichthyosis/CIE - New concepts, new mutations., Recent Ichthyosis Research, F.I.R.S.T.
- ^ Congenital Ichthyosiform Erythroderma, Types of Ichthyosis, F.I.R.S.T
- ^ Congenital Ichthyosis, Rare Disease Registry, University of Padua, Italy
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University, Ichthyosiform erythroderma, congenital, nonbullous, 1
UpToDate Contents
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English Journal
- Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: Results from a nationwide survey.
- Kurosawa M, Takagi A, Tamakoshi A, Kawamura T, Inaba Y, Yokoyama K, Kitajima Y, Aoyama Y, Iwatsuki K, Ikeda S.SourceDepartment of Epidemiology and Environmental Health, Juntendo University Graduate School of Medicine, Tokyo, Japan. Electronic address: mic@juntendo.ac.jp.
- Journal of the American Academy of Dermatology.J Am Acad Dermatol.2012 Nov 19. pii: S0190-9622(12)00784-0. doi: 10.1016/j.jaad.2012.06.044. [Epub ahead of print]
- BACKGROUND: Detailed nationwide surveys of the epidemiologic and clinical characteristics of bullous congenital ichthyosiform erythroderma (BCIE) (novel synonym: keratinolytic ichthyosis) in a large population have not been performed previously to our knowledge.OBJECTIVE: We sought to estimate the n
- PMID 23182068
- A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters.
- Karaca B.
- Annals of Saudi medicine.Ann Saudi Med.2012 Sep-Oct;32(5):547-8. doi: 10.5144/0256-4947.2012.547.
- PMID 22871629
Japanese Journal
- 感染性心内膜炎の治療中にリネゾリド耐性MRSAを検出した先天性魚鱗癬様紅皮症の1例
- 安達 裕行,新井 浩和,伊藤 智夫,萱場 広之,高橋 勉
- 日本小児科学会雑誌 116(4), 699-704, 2012-04-01
- NAID 10030557886
- Clinical Manifestation and Classification of Japanese Patients with Inherited Keratinizing Disorders
- IKEJIMA AYAKO,SUGA YASUSHI,MIZUNO YUKI [他]
- 順天堂医学 58(2), 135-142, 2012
- NAID 40019320719
Related Links
- definition Uncommon disorder which may represent more than one metabolic abnormality. It is inherited as a recessive characteristic and presents with generalized erythroderma and fine scaling of the entire skin surface, the skin ...
- erythroderma /eryth·ro·der·ma/ (-der´mah) abnormal redness of the skin over widespread areas of the body.erythroder´mic congenital ichthyosiform erythroderma a generalized hereditary dermatitis with scaling, which occurs in bullous (epidermolytic hyperkeratosis) ...
Related Pictures
★リンクテーブル★
[★]
- 英
- congenital ichthyosiform erythroderma
[★]
非水疱型先天性魚鱗癬様紅皮症
- 関
- harlequin ichthyosis、lamellar ichthyosis
[★]
非水疱型先天性魚鱗癬様紅皮症
[★]
水疱型先天性魚鱗癬様紅皮症
[★]
- 関
- congenital、congenitally
[★]